Defective MAOA does not oxidatively deaminate 5HT

Stable Identifier
R-HSA-5603108
Type
Reaction [transition]
Species
Homo sapiens
Compartment
ReviewStatus
5/5
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Amine oxidase (flavin-containing) A (MAOA) catalyses the oxidative deamination of biogenic and dietary amines, the regulation of which is critical for mental state homeostasis. MAOA, located on the mitochondrial outer membrane and requiring FAD as cofactor, preferentially oxidises biogenic amines such as 5-hydroxytryptamine (5HT), dopamine, noradrenaline and adrenaline. Defects in MAOA can cause Brunner syndrome (BRUNS; MIM:300615), a form of X-linked non-dysmorphic mild mental retardation. Male patients are affected by mild mental retardation and exhibit abnormal behaviour, including impulsive aggression. A mutation that causes BRUNS is Q296* (Brunner et al. 1993).
Literature References
PubMed ID Title Journal Year
8211186 Abnormal behavior associated with a point mutation in the structural gene for monoamine oxidase A

Brunner, HG, Nelen, M, Ropers, HH, van Oost, BA, Breakefield, XO

Science 1993
Participants
Participates
Catalyst Activity

primary amine oxidase activity of MAOA Q296*:FAD [mitochondrial outer membrane]

Normal reaction
Functional status

Loss of function of MAOA Q296*:FAD [mitochondrial outer membrane]

Status
Disease
Name Identifier Synonyms
disease of mental health DOID:150
Authored
Reviewed
Created
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